title: A family with different clinical forms of acid maltase deficiency (glycogenosis type II): biochemical and genetic studies.
abstract: In the same family, the generalized or infantile form of acid maltase deficiency (glycogenosis type II, Pompe disease) and the muscular or adult-onset form affected different individuals. Autosomal-recessive inheritance for the two clinical forms was demonstrated in this family by assay of acid alpha-glucosidase in muscle, lymphocytes, cultured fibroblasts, and urine of asymptomatic relatives. Current biochemical techniques do not discriminate between persons heterozygous for the generalized form and those heterozygous for the muscular form. To explain the coexistence of both forms in the same family, the infant with the generalized form or her grandfather with the muscular form must have been a genetic compound of different mutant alleles for acid alpha-glucosidase.
mesh_terms: D000328:Adult; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005087:Glucan 1,4-alpha-Glucosidase / Q000235:genetics / Q000378:metabolism* / Q000652:urine; D005959:Glucosidases / Q000378:metabolism*; D006008:Glycogen Storage Disease / Q000235:genetics*; D006009:Glycogen Storage Disease Type II / Q000201:enzymology / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000201:enzymology; D010375:Pedigree; D012867:Skin / Q000201:enzymology; D000520:alpha-Glucosidases
chemical_list: D005959:Glucosidases; D000520:alpha-Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase